Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Nephrogenic diabetes insipidus.

N V Knoers1, L L Monnens

  • 1Department of Human Genetics, University of Hospital Nijmegen, The Netherlands. n.knoers@antrg.azn.nl

Seminars in Nephrology
|August 6, 1999
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Male patients affected by mosaic PCDH19 mutations: five new cases.

Neurogenetics·2017
Same author

Decreased bone density and treatment in patients with autosomal recessive cutis laxa.

Acta paediatrica (Oslo, Norway : 1992)·2008
Same author

[From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes].

Nederlands tijdschrift voor geneeskunde·2007
Same author

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

Molecular psychiatry·2007
Same author

Molecular and cellular defects in nephrogenic diabetes insipidus.

Pediatric nephrology (Berlin, Germany)·2002
Same author

Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families.

Archives of neurology·2001

Nephrogenic diabetes insipidus (NDI), a rare inherited kidney disorder, is better understood due to identifying the vasopressin type-2 receptor (V2R) and aquaporin-2 (AQP2) genes. Research now focuses on developing new therapies for water balance disorders.

Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Nephrogenic diabetes insipidus (NDI) is a rare inherited renal tubular disorder.
  • Recent advances have significantly improved understanding of NDI's underlying mechanisms.

Purpose of the Study:

  • To review the progress in understanding NDI.
  • To highlight the identification of key genes and mutations involved in NDI.
  • To discuss the implications for developing new therapeutic strategies.

Main Methods:

  • Identification of the vasopressin type-2 receptor (V2R) gene.
  • Identification of the aquaporin-2 (AQP2) gene.
  • Functional characterization of mutations in V2R and AQP2.

Main Results:

Related Experiment Videos

  • Discovery of two primary genes responsible for NDI: V2R and AQP2.
  • Identification of numerous mutations within these genes.
  • Enhanced understanding of renal cellular mechanisms in diuresis and antidiuresis.

Conclusions:

  • Genetic discoveries have greatly advanced the understanding of NDI.
  • The field is poised for developing novel therapeutic strategies for water balance disorders.
  • Further research into V2R and AQP2 function is crucial for NDI treatment.